Disease #05266 (LGMDR25;LGMD2X (dystrophy, muscular, limb-girdle, autosomal recessive, type 25 (LGMD2X)), OMIM:616812)

Official abbreviation LGMDR25;LGMD2X
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 25 (LGMD2X)
OMIM ID 616812
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene BVES
Associated tissues -
Disease features -
Remarks -
Date created 2017-05-05 19:14:54 +02:00 (CEST)
Date last edited 2024-01-12 21:09:35 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00104044 26642364_Fam PubMed: Schindler 2016, Journal: Schindler 2016 3-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents/sibs M - Italy Albania - - - - LGMDR25;LGMD2X cardiac arrhythmia, limb-girdle muscular dystrophy BVES BVES 1 3 Johan den Dunnen
00104045 25589244-Fam PubMed: Chardon 2015, Journal: Chardon 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Canada - - - - - LGMDR25;LGMD2X see paper; ..., both sibs met early motor milestones; 5y both developed proximal weakness, with calf hypertrophy, macroglossia; weakness progressed to severe quadriparesis; 12y-both siblings required manual wheelchair and motorized wheelchair at 19y LIMS2 LIMS2 3 2 Johan den Dunnen
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