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Autosomal recessive limb-girdle muscular dystrophy type 2N

ORPHA:206559
Synonym(s) LGMD2N
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G71.0
OMIM
UMLS -
MeSH -
GARD
MedDRA -

Summary

Disease definition

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in childhood, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.

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