Hereditary inclusion body myopathy: The Middle Eastern genetic cluster

Recessively inherited hereditary inclusion body myopathy (HIBM) with quadriceps sparing was initially described only in Jews originating from the region of Persia. The recent identification of the gene responsible for this myopathy and the common "Persian Jewish mutation" (M712T) enabled t...

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Veröffentlicht in:	Neurology 2003-05, Vol.60 (9), p.1519-1523
Hauptverfasser:	ARGOV, Z, EISENBERG, I, GRABOV-NARDINI, G, SADEH, M, WIRGUIN, I, SOFFER, D, MITRANI-ROSENBAUM, S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Amino Acid Substitution Arabs - genetics Biological and medical sciences Carbohydrate Epimerases - deficiency Carbohydrate Epimerases - genetics Diseases of striated muscles. Neuromuscular diseases Female Founder Effect Genes, Recessive Genotype Haplotypes History, Ancient Humans Jews - genetics Male Medical sciences Middle Aged Middle East - ethnology Mutation, Missense Myositis, Inclusion Body - ethnology Myositis, Inclusion Body - genetics Myositis, Inclusion Body - history Neurology Phenotype Point Mutation
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