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Figure 5 | Orphanet Journal of Rare Diseases

Figure 5

From: Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Figure 5

Molecular analysis of MYH7B gene mutation. (A) Mutation analysis of the MYH7B gene. Arrowheads mark the sites of base alterations. The DNA sequences of the family subjects are shown; the pedigree number is indicated on the right. (B) Evolutionary conservation analysis. Arginine 890 is underlined. The MYH7 amino acids mutated in cardiomyopathy are shown in red. (C) MYH7B mRNA expression in human tissues and in RNA derived from family members. M indicates the 1 kb Plus marker (Fermentas).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172