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- Title
Early versus late diagnosis of LAMA2 congenital muscular dystrophy: a distinct consequence.
- Authors
Lin, Chien-Heng; Lin, Sheng-Shing; Hong, Syuan-Yu; Chen, Chieh-Ho; Chou, I-Ching
- Abstract
Background: Laminin subunit alpha 2 (LAMA2)-related muscular dystrophy (LAMA2 MD) is caused by homozygous or compound heterozygous mutations in LAMA2 (OMIM#156225), located on chromosome 6q22. Case presentation: We describe two patients with LAMA2 MD treated at a Taiwanese hospital. Both presented with gradual hypotonia starting in early infancy. A targeted muscular dystrophy/myopathy panel and whole-exome sequencing were used as diagnostic tools in both patients. In Patient 1, a maternally inherited variant (NM_000426.3:c.7525_7528dupCTCA/ p.Ser2510ThrfsTer3) and a paternally inherited variant (c.112 + 2 T > C) were revealed. In Patient 2, compound heterozygote mutations in LAMA2 were identified: 1) c.1583dupA(p.S529Efs*18) in exon 11, inherited paternally, and 2) c.A6931T:p.K2311X in exon 49, inherited maternally. The discovery of these four mutations enriches the genetic spectrum of LAMA2 MD. Conclusions: We suggest that comprehensive genetic investigations be performed as early as possible in patients with suspected muscular dystrophy to provide appropriate treatment.
- Subjects
MUSCULAR dystrophy; FACIOSCAPULOHUMERAL muscular dystrophy; DELAYED diagnosis; GENETIC mutation; WHITE matter (Nerve tissue); MUSCLE diseases
- Publication
Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2024, Vol 60, Issue 1, p1
- ISSN
1110-1083
- Publication type
Article
- DOI
10.1186/s41983-023-00777-6