October 1, 1996Neurology
The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews
Key result
Familial inclusion body myopathy affects ~13% of red-rimmed vacuolar myopathy patients, revealing a distinct quadriceps-sparing phenotype.
- n=101
Population
101 patients with red-rimmed vacuolar myopathy characterized as inclusion body myopathy, from which 13…
Design
Case_series
Authors
Discussion
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Implication
Supports expanded genetic evaluation for familial inclusion body myopathy beyond Iranian-Jewish ancestry in red-rimmed vacuolar myopathy; case reports leave prevalence and management implications open.
Study Design
Type
Observational (n=101)
Structured PICO
P
Population
101 patients with red-rimmed vacuolar myopathy evaluated over 4 years to determine the frequency and phenotypes of familial inclusion body myopathy.
Quadriceps-sparing myopathy is a clinically distinct, autosomal recessive, distal vacuolar myopathy that is not limited to Iranian-Jewish ethnic groups.
Cite This Study
Sivakumar et al. (1996) conducted an observational in Familial inclusion body myopathy (n=101). Familial inclusion body myopathy was evaluated on Frequency of familial inclusion body myopathy. Familial inclusion body myopathy was identified in 12.8% of patients with red-rimmed vacuolar myopathy, revealing a distinct quadriceps-sparing phenotype not limited to Iranian-Jewish groups.