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Congenital myopathy v6.34 MT-TA Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TA.
Congenital myopathy v6.31 MT-TA Achchuthan Shanmugasundram changed review comment from: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant. This variant was also present to a lower extent in the unaffected sister of the patient.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.; to: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant. This variant was also present to a lower extent in the unaffected sister of the patient.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.

In summary, there are no cases reported with onset of myopathy in infancy. However, it appears that there is one family with myopathy since early childhood. The other reported cases developed myopathy later in life.
Congenital myopathy v6.31 MT-TA Achchuthan Shanmugasundram Classified gene: MT-TA as Amber List (moderate evidence)
Congenital myopathy v6.31 MT-TA Achchuthan Shanmugasundram Gene: mt-ta has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.30 MT-TA Achchuthan Shanmugasundram Phenotypes for gene: MT-TA were changed from to inborn mitochondrial myopathy, MONDO:0009637
Congenital myopathy v6.29 MT-TA Achchuthan Shanmugasundram Publications for gene: MT-TA were set to
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MT-TA.
Tag Q2_25_expert_review was removed from gene: MT-TA.
Tag Q2_25_ NHS_review was removed from gene: MT-TA.
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TA.
Tag Q2_25_expert_review tag was added to gene: MT-TA.
Tag Q2_25_ NHS_review tag was added to gene: MT-TA.
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram edited their review of gene: MT-TA: Changed publications to: 11715067, 14569122, 17825557
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram changed review comment from: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.; to: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant. This variant was also present to a lower extent in the unaffected sister of the patient.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram reviewed gene: MT-TA: Rating: AMBER; Mode of pathogenicity: None; Publications: 17825557; Phenotypes: inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.10 MT-TA Katherine Schon reviewed gene: MT-TA: Rating: AMBER; Mode of pathogenicity: Other; Publications: 17825557; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.9 MT-TA Achchuthan Shanmugasundram gene: MT-TA was added
gene: MT-TA was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Mode of pathogenicity for gene: MT-TA was set to Other