A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.
Neuromuscul Disord
; 30(2): 159-164, 2020 02.
Article
in En
| MEDLINE
| ID: mdl-32005493
ABSTRACT
We describe the presentation and follow-up of a three-year-old girl with nemaline myopathy due to a de-novo variant in ACTA1 (encoding skeletal alpha actin) and moderately low enzyme level of Complex I of the mitochondrial respiratory chain. She presented in the neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory and neck flexors muscles. A biopsy of her quadriceps muscle at the age of one year showed nemaline rods. Based on her clinical presentation of a congenital myopathy and histopathological features on a muscle biopsy, ACTA1 was sequenced, and this revealed a novel sequence variant, c.760 A>C p. (Asn254His). In addition, mitochondrial respiratory chain enzymatic activity of skeletal muscle biopsy showed a moderately low activity of complex I (nicotinamide adenine dinucleotide (NADH) ubiquinone oxidoreductase). Disturbances of Complex I of the respiratory chain have been reported in patients with nemaline myopathy, although the mechanism remains unclear.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Actins
/
Myopathies, Nemaline
/
Mitochondrial Diseases
/
Electron Transport Complex I
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2020
Type:
Article
Affiliation country:
United kingdom