Phenotypic heterogeneity in familial inclusion body myopathy
β Scribed by Dr. Miriam Y. Neufeld; Dr. Menachem Sadeh; Dr. Betty Assa; Dr. Mark Kushnir; Dr. Amos D. Korczyn
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 239 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-639X
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π SIMILAR VOLUMES
## The most common form of autosomal recessive (AR) hereditary inclusion-body myopathy (HIBM), originally described in Persian-Jewish families, is characterized by onset in early adult life with weakness and atrophy of distal lower limb muscles, which progress proximally and relatively spare the q
## Abstract Accumulation of Ξ²βamyloid protein (AΞ²) occurs in some muscle fibers of patients with inclusion body myopathy and resembles the type of amyloid deposits seen in the affected tissues of patients with Alzheimer's disease and cerebrovascular amyloidosis. Because mutations in exons 16 and 17