Disease #03406 (LGMDR17;LGMD2Q (dystrophy, muscular, limb-girdle, autosomal recessive, type 17/2Q (LGMDR17, LGMD2Q)), OMIM:613723)

Official abbreviation LGMDR17;LGMD2Q
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 17/2Q (LGMDR17, LGMD2Q)
OMIM ID 613723
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PLEC
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-11-11 10:30:55 +01:00 (CET)


Individuals

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00472260 - Verebi et al. (submitted) - M - France - - - - - LGMDR17;LGMD2Q 0006785: Limb-girdle muscular dystrophy, 0002747: Respiratory failure due to muscle weakness, 0004887: Respiratory failure requiring ventilatory support - PLEC 1 1 Camille Verebi
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