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GENATLAS PHENOTYPE
last update : 16-01-2018
Symbol MPD1
Location 14q11.2
HGNC id 7206
Name myopathy, distal 1
Other name(s)
  • myopathy, late distal hereditary
  • Laing distal myopathy
    • Corresponding gene MYH7
    Main clinical features
  • infantile onset, Laing-type with slow progression, involving proximal muscles in the fourth decade
  • also form associated to dilated cardiomyopathy (PMID: 21211974))
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name myosin, heavy polypeptide 7
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutations introducing a proline or deletions of a single aminoacid
    Remark(s)
    Genotype/Phenotype correlations due to mutation in exons 32-36