This mutation was shown by complementation analysis versus the original, dystrophia muscularis mutation to be an allele of Lama2. The molecular lesion is a single base change from T to C at the first position of codon 79, which converts Cys79 to Arg. (J:134367)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count