Key result
The c.2997G>T dysferlin mutation was associated with late onset, proximal dominant forms of dysferlinopathy, upper limb weakness onset, and lower serum creatine kinase levels in LGMD2B patients.
Population
40 Japanese patients in 36 families with limb girdle muscular dystrophy 2B in whom dysferlin mutations were…
Design
Cohort
Authors
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May inform counseling on late-onset LGMD2B phenotypes in Japanese patients; extends genotype-phenotype data but leaves management unchanged.
Observational (n=40)
In Japanese patients with LGMD2B, the prevalent c.2997G>T mutation is associated with a late-onset, proximal-dominant phenotype with preserved cardiac function but declining respiratory function.
Takahashi et al. (2012) conducted an observational in Limb girdle muscular dystrophy 2B (n=40). Dysferlin mutations (c.2997G>T) was evaluated on Clinical and mutational features. The c.2997G>T dysferlin mutation was associated with late onset, proximal dominant forms of dysferlinopathy, upper limb weakness onset, and lower serum creatine kinase levels in LGMD2B patients.
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