Mean onset age (years)2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,3232 . Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglycanopathies: can
muscle immunoanalysis predict the genotype? Neuromuscul Disord
2008;18:934-941.,3535 . Rosales XQ, Gastier-Foster JM, Lewis S, et al. Novel diagnostic
features of dysferlinopathies. Muscle Nerve 2010;42:14-21.,3636 . Paradas C, González-Quereda L, De Luna N, et al. A new
phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord
2009;19:21-25.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4949 . Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular
dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric
protein telethonin. Nat Genet 2000;24:163-166.
|
13 |
6 |
19 |
19 |
12 |
Typical onset age range (years)2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,66 . Engel AG, Franzini-Armstrong C. Myology 3rd ed. New York:
McGraw-Hill, 2004:1-1960.,3535 . Rosales XQ, Gastier-Foster JM, Lewis S, et al. Novel diagnostic
features of dysferlinopathies. Muscle Nerve 2010;42:14-21.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.
|
8-15 |
6-8 |
17-25 |
2-40 |
9-15 |
Wide onset age range (years)2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,3232 . Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglycanopathies: can
muscle immunoanalysis predict the genotype? Neuromuscul Disord
2008;18:934-941.,3636 . Paradas C, González-Quereda L, De Luna N, et al. A new
phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord
2009;19:21-25.,3737 . Takahashi T, Aoki M, Suzuki N, et al. Clinical features and a
mutation with late onset of limb girdle muscular dystrophy 2B. J Neurol
Neurosurg Psychiatry 2013;84:433-440.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.,5151 . Paim JF, Cotta A, Vargas AP, et al. Muscle phenotypic variability
in limb girdle muscular dystrophy 2G. J Mol Neurosci
2013;50:339-344.
|
1-67 |
1-30 |
1-58 |
2-50 |
1-20 |
Disease progression rate33 . Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies:
update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol
2011;24:429-436.
|
++ |
+++ |
+ |
++ |
+ |
Subacute start mimicking polymyositis33 . Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies:
update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol
2011;24:429-436.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.,4949 . Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular
dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric
protein telethonin. Nat Genet 2000;24:163-166.
|
-/+ |
- |
++ |
- |
- |
Ambulation loss (age in years)2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.,66 . Engel AG, Franzini-Armstrong C. Myology 3rd ed. New York:
McGraw-Hill, 2004:1-1960.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4949 . Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular
dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric
protein telethonin. Nat Genet 2000;24:163-166.
|
21-40 |
12-16 |
18-58 |
>12 |
>30 |
Cardiomyopathy33 . Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies:
update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol
2011;24:429-436.,2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,2525 . Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C. LGMD2E
patients risk developing dilated cardiomyopathy. Neuromuscul Disord
2003;13:303-309.,11 . Norwood FL, de Visser M, Eymard B, Lochmüller H, Bushby K and
Members of EFNS Guideline Task Force. EFNS guideline on diagnosis and management
of limb girdle muscular dystrophies. Eur J Neurol
2007;14:1305-1312.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.
|
- |
+++ |
- |
+ |
+ |
Early respiratory abnormality2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,3232 . Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglycanopathies: can
muscle immunoanalysis predict the genotype? Neuromuscul Disord
2008;18:934-941.,11 . Norwood FL, de Visser M, Eymard B, Lochmüller H, Bushby K and
Members of EFNS Guideline Task Force. EFNS guideline on diagnosis and management
of limb girdle muscular dystrophies. Eur J Neurol
2007;14:1305-1312.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.
|
- |
- |
- |
+ |
- |
Upper and lower limbs interval (years)2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,66 . Engel AG, Franzini-Armstrong C. Myology 3rd ed. New York:
McGraw-Hill, 2004:1-1960.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.
|
<2** |
** |
>6** |
** |
** |
Increased calf11 . Norwood FL, de Visser M, Eymard B, Lochmüller H, Bushby K and
Members of EFNS Guideline Task Force. EFNS guideline on diagnosis and management
of limb girdle muscular dystrophies. Eur J Neurol
2007;14:1305-1312.,33 . Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies:
update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol
2011;24:429-436.,2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.,3232 . Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglycanopathies: can
muscle immunoanalysis predict the genotype? Neuromuscul Disord
2008;18:934-941.,3535 . Rosales XQ, Gastier-Foster JM, Lewis S, et al. Novel diagnostic
features of dysferlinopathies. Muscle Nerve 2010;42:14-21.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.
|
-/+ |
++ |
-/+ |
++ |
++ |
Winged scapula33 . Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies:
update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol
2011;24:429-436.,2828 . Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A:
genotype-phenotype correlations based on a large mutational survey on the
calpain 3 gene. Brain 2005;128:732-742.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.,3232 . Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglycanopathies: can
muscle immunoanalysis predict the genotype? Neuromuscul Disord
2008;18:934-941.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.
|
++ |
++ |
- |
-/+ |
+ |
“Dystrophinopathy-like”
phenotype33 . Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies:
update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol
2011;24:429-436.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.,3232 . Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglycanopathies: can
muscle immunoanalysis predict the genotype? Neuromuscul Disord
2008;18:934-941.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,4646 . Boito CA, Melancini P, Vianello A, et al. Clinical and molecular
characterization of patients with limb-girdle muscular dystrophy type 2I. Arch
Neurol 2005;62:1894-1899.
|
-/+ |
++ |
- |
++ |
- |
Serum creatine kinase (CPK) times increase11 . Norwood FL, de Visser M, Eymard B, Lochmüller H, Bushby K and
Members of EFNS Guideline Task Force. EFNS guideline on diagnosis and management
of limb girdle muscular dystrophies. Eur J Neurol
2007;14:1305-1312.,5151 . Paim JF, Cotta A, Vargas AP, et al. Muscle phenotypic variability
in limb girdle muscular dystrophy 2G. J Mol Neurosci
2013;50:339-344.,6262 . Nigro V, Savarese M. Genetic basis of limb-girdle muscular
dystrophies: the 2014 update. Acta Myol 2014;33:1-12.
|
3-20x |
5-40x |
10-70x |
10-20x |
1-30x |
Distal myopathy phenotype11 . Norwood FL, de Visser M, Eymard B, Lochmüller H, Bushby K and
Members of EFNS Guideline Task Force. EFNS guideline on diagnosis and management
of limb girdle muscular dystrophies. Eur J Neurol
2007;14:1305-1312.,3535 . Rosales XQ, Gastier-Foster JM, Lewis S, et al. Novel diagnostic
features of dysferlinopathies. Muscle Nerve 2010;42:14-21.,3838 . Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40
patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Arch Neurol 2007;64:1176-1182.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.
|
- |
- |
-/+ |
- |
-/+ |
Contractures11 . Norwood FL, de Visser M, Eymard B, Lochmüller H, Bushby K and
Members of EFNS Guideline Task Force. EFNS guideline on diagnosis and management
of limb girdle muscular dystrophies. Eur J Neurol
2007;14:1305-1312.,4545 . Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle
muscular dystrophy type 2I. Neurology 2003;60:1246-1251.,1111 . Vainzof M, Bushby K. Chapter 11. Muscular dystrophies presenting
with proximal muscle weakness. In: Karpati G, Hilton-Jones D, Bushby K, Griggs
RC.(EDS) Disorders of Voluntary Muscle 8th edition. Cambridge: Cambridge
University Press, 2010:230-256.
|
+ |
+ |
- |
- |
- |