Condition: Muscle Weakness


rs1562846694 in ACTL6B;TFR2 gene and Muscle Weakness PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs867410737 in ATP5F1D gene and Muscle Weakness PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs1556424691 in CYTB;ND6;TRNT gene and Muscle Weakness PMID 30236074 2018 Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

PMID 22638997 2012 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

PMID 29760464 2018 CO2-sensitive tRNA modification associated with human mitochondrial disease.

PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Muscle Weakness PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs1114167445 in SPTBN4 gene and Muscle Weakness PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.