Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
P2860
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
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2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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name
Two patients with GMPPB mutati ...... dystrophy dystroglycanopathy.
@en
Two patients with GMPPB mutati ...... dystrophy dystroglycanopathy.
@nl
type
label
Two patients with GMPPB mutati ...... dystrophy dystroglycanopathy.
@en
Two patients with GMPPB mutati ...... dystrophy dystroglycanopathy.
@nl
prefLabel
Two patients with GMPPB mutati ...... dystrophy dystroglycanopathy.
@en
Two patients with GMPPB mutati ...... dystrophy dystroglycanopathy.
@nl
P2093
P2860
P356
P1433
P1476
Two patients with GMPPB mutati ...... r dystrophy dystroglycanopathy
@en
P2093
Dieter Gläser
Dimitrios C Karampinos
Elisabeth Klupp
Federica Montagnese
Saskia Biskup
P2860
P304
P356
10.1002/MUS.25485
P577
2017-02-23T00:00:00Z