Disease #05946 (MMYAT (myopathy, mitochondrial, and ataxia (MMYAT)), OMIM:617675)

Official abbreviation MMYAT
Name myopathy, mitochondrial, and ataxia (MMYAT)
OMIM ID 617675
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene MSTO1
Associated tissues -
Disease features -
Remarks -
Date created 2021-05-28 14:36:15 +02:00 (CEST)
Date last edited N/A


Individuals

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00472197 - Verebi et al. (submitted) - M - France - - - - - MMYAT EMG abnormality * Increased muscle glycogen content * Type 1 muscle fiber predominance * Abnormal circulating creatine kinase concentration * Axial muscle weakness * Pelvic girdle muscle weakness * Shoulder girdle muscle weakness * Exercise-induced muscle stiffness - MSTO1 1 1 Camille Verebi
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