Table 1 Genetic and Clinical Findings in Patients with LAMA2 MD
From: Early versus late diagnosis of LAMA2 congenital muscular dystrophy: a distinct consequence
Patient | Age/Sex | Age at diagnosis | LAMA2 mutations | Initial presentation | Initial CPK level (IU/L) | Brain MRI | Clinical course and outcome |
|---|---|---|---|---|---|---|---|
1 | 7 y/F | 8 mo | c.7525_7528dupCTCA(p.Ser2510ThrfsTer3)/c.112 + 2 T > C | Hypotonia and feeding difficulties from early infancy | 2217 | At 8 mo: Abnormal periventricular and subcortical white matter signals | Mental activity and cognition were normal, but ambulation was not achieved |
2 | 14 mo/M | 1 mo after death (14 mo) | c.1583dupA(p.S529Efs*18)/c.A6931T(p.K2311X) | Hypotonia, respiratory muscle weakness, and feeding difficulties from birth | 548 | First (10 mo): Ventricular dilatation and myelination delay. Second (12 mo): Extensive cystic cavities and marked neuronal tissue loss in both hemispheres | OHCA twice and death from respiratory failure |