Disease #00427 (MFM1;LGMD1D (myopathy, myofibrillar, type 1 (MFM-1, limb-girdle muscular dystrophy 1D (LGMD-1D)), OMIM:601419)

Official abbreviation MFM1;LGMD1D
Name myopathy, myofibrillar, type 1 (MFM-1, limb-girdle muscular dystrophy 1D (LGMD-1D)
OMIM ID 601419
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 1
Associated with 1 gene DES
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-20 20:36:17 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00434998 - - - M - - - - - - - MFM1;LGMD1D - DES DES 1 1 Corinne Metay
00448687 - - - - yes - - - - - - MFM1;LGMD1D - - DNAJB4 1 1 Corinne Metay
00472223 359784 - - M no Germany - - - - - MFM1;LGMD1D Muscle weakness, Dysphonia, Third degree atrioventricular block, Dyspnea, Dysphagia, High palate, Beevor's sign, Atrial fibrillation, Skeletal muscle atrophy DES DES 1 1 Andreas Laner
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