Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.
J Musculoskelet Neuronal Interact
; 21(3): 397-400, 2021 09 01.
Article
in En
| MEDLINE
| ID: mdl-34465679
ABSTRACT
Miyoshi myopathy (MM) is a rare autosomal recessive disorder caused by dysferlin (DYSF) gene mutation. Miyoshi myopathy-inducing mutation sites in the DYSF gene have been discovered worldwide. In the present study, a patient with progressive lower extremity weakness is reported, for which MM was diagnosed according to clinical manifestations, muscle biopsy, and immunohistochemistry. In addition, the DYSF gene of the patient and his parents was sequenced and analyzed and two heterozygous mutations of the DYSF gene (c.4756C> T and c.5316dupC) were discovered. The first mutation correlated with MM while the second was a new mutation. The patient was diagnosed with a compound heterozygous mutation. The mutation site is a new member of pathogenic MM gene mutations.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Membrane Proteins
/
Muscle Proteins
Type of study:
Etiology_studies
Limits:
Humans
Language:
En
Journal:
J Musculoskelet Neuronal Interact
Journal subject:
FISIOLOGIA
/
NEUROLOGIA
/
ORTOPEDIA
Year:
2021
Type:
Article
Affiliation country:
China