Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report.

ABSTRACT:

Rationale

Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and long-term prognosis.

Patient concerns

An 18-year-old woman presented with progressive weakness of limbs, persistent elevated serum creatine kinase, myogenic damages in electromyography, and dysferlin protein deficiency in muscle biopsy. Further next-generation sequencing (NGS) revealed a compound heterozygous variant in dysferlin gene (DYSF), including a novel frameshift variant of c.4010delT.

Diagnosis

The patient was diagnosed with LGMD2B clinically and genetically.

Interventions

Oral levocarnitine and coenzyme Q10 w

SUBMITTER: Li Q 

PROVIDER: S-EPMC7544278 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature