limb-girdle myasthenia autosomal recessive

(redirected from congenital myasthenic syndrome type 1B)

limb-girdle myasthenia autosomal recessive

An 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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