单词 | limb-girdle myasthenia autosomal recessive |
释义 | limb-girdle myasthenia autosomal recessivelimb-girdle myasthenia autosomal recessiveAn autosomal recessive myasthenic syndrome (OMIM:254300) characterised by a typical limb girdle pattern of muscle weakness with small, simplified neuromuscular junctions, but normal acetylcholine receptor and acetylcholinesterase function. |
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