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GENATLAS PHENOTYPE
last update : 02-07-2019
Symbol LGMD2K
Location 9q34.1
Name limb-girdle muscular dystrophy 2K
Corresponding gene POMT1
Main clinical features
  • age at onset from 1 to 6 years, with difficulty in walking and climbing stairs, slow progression, proximal muscle weakness, mild muscle hypertrophy, increased serum creatine kinase, microcephaly, and mental retardation (IQ range 50 to 76)
  • brain imaging was normal with no structural abnormalities or white matter changes; skeletal muscle biopsy showed dystrophic changes, including mild fibrosis with many regenerating and few necrotic fibers, increased fiber size variability, and multiple central nuclei
  • associated with cardiomyopathy in any cases (PMID: 2549409)
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     A200P, leading to milder disorder of glycosylation
    Remark(s)