May 1, 1999Human Molecular Genetics

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

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Population

Patients with Limb girdle muscular dystrophy type 2B or Miyoshi myopathy from families exhibiting both…

Design

Other

Authors

TWTracey WeilerFlorida International University RBR. BashirLahore College for Women University LALouise V.B. AndersonCentre for Life

Discussion

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Implication

May complicate phenotype prediction from dysferlin genotype alone; leaves open modifier gene identification for targeted studies.

Structured PICO

Population

Patients with Limb girdle muscular dystrophy type 2B (LGMD2B) or Miyoshi myopathy (MM) from families exhibiting both phenotypes, plus four additional patients from two previously unpublished families.

Outcome

Dysferlin gene mutation identification and protein expression/localizationsurrogate

The identical dysferlin mutation causes both LGMD2B and Miyoshi myopathy, indicating that additional modifier genes are required to determine the specific clinical phenotype.

Cite This Study

Weiler et al. (1999) studied this question.

synapsesocial.com/papers/6a8317d724ad758e22e8e5c2 https://doi.org/10.1093/hmg/8.5.871

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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider