Congenital myopathy

Gene: MT-TA

I don't know

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.

Created: 29 Jun 2025, 11:21 a.m. | Last Modified: 29 Jun 2025, 11:29 a.m.

Panel Version: 6.31

Mode of inheritance
MITOCHONDRIAL

Phenotypes
inborn mitochondrial myopathy, MONDO:0009637

Publications

• 11715067
• 14569122
• 17825557

I don't know

m.5650G>A pathogenic variant in MT-TA has been reported to cause myopathy. Amber - one family with myopathy and one with neurological disease.

Created: 24 Jun 2025, 10:53 a.m. | Last Modified: 24 Jun 2025, 10:53 a.m.

Panel Version: 6.10

Mode of inheritance
MITOCHONDRIAL

Publications

• 17825557

Mode of pathogenicity
Other