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. 2020 Aug 22;79(9):998–1010. doi: 10.1093/jnen/nlaa062

Table.

Clinical Features of MDC1A Patients with Cobblestone Malformation.

Patient Clinical Findings CK (U/L)* LAMA2 Variants Brain MRI Results
1 Hypotonia, development delay 5951

  • c.2049_2050delAG, p.Arg683Serfs*21

  • and c.8669dupT,

  • p.Leu2890Phefs*16.

  • 4 months: normal

  • 2 years: diffuse high signal in the white matter without structural abnormalities
2 Hypotonia noted at 3 ½ months, intellectual disability, seizures 5513

  • Homozygous

  • c.1823_1824delAT, p.Tyr608*

 18 months: diffuse pebbled brain surface, frontal polymicrogyria and temporal-occipital cobblestone malformation, mild hypoplasia of pons and cerebellar vermis, and striking cerebellar cortical dysplasia
3 Hypotonia at 4 months 3130

  • c.1580G>A, p.Cys527Tyr

  • and

  • c.7732C>T, p.Arg2578*

 8 months: disorder of neuronal migration in the posterior-occipital region
4 Hypotonia, development delay >1300

  • c.4692 _c.4695dupTGCA, p.Arg1566Cysfs*13

  • and

  • c.7732C>T, p.Arg2578*

 6 months: diffuse white matter changes and minor cortical changes suggesting possible migration abnormalities

LAMA2, laminin α2; MDC1A, congenital muscular dystrophy type 1A; MRI, magnetic resonance imaging.

*

Highest recorded serum creatine kinase.