about
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyA gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2pThe gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneA gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BRecessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.A new distal myopathy with mutation in anoctamin 5.Axial myopathy--an unrecognised entity.Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study
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description
researcher
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wetenschapper
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հետազոտող
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name
Ibrahim Mahjneh
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Ibrahim Mahjneh
@en
Ibrahim Mahjneh
@es
Ibrahim Mahjneh
@nl
Ibrahim Mahjneh
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type
label
Ibrahim Mahjneh
@ast
Ibrahim Mahjneh
@en
Ibrahim Mahjneh
@es
Ibrahim Mahjneh
@nl
Ibrahim Mahjneh
@sl
prefLabel
Ibrahim Mahjneh
@ast
Ibrahim Mahjneh
@en
Ibrahim Mahjneh
@es
Ibrahim Mahjneh
@nl
Ibrahim Mahjneh
@sl
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P496
0000-0002-0752-9949