Recessive MYH7-related myopathy in two families
SJ Beecroft, M van de Locht, JM de Winter… - Neuromuscular …, 2019 - Elsevier
Myopathies due to recessive MYH7 mutations are exceedingly rare, reported in only two
families to date. We describe three patients from two families (from Australia and the UK)
with a myopathy caused by recessive mutations in MYH7. The Australian family was
homozygous for a c. 5134C> T, p. Arg1712Trp mutation, whilst the UK patient was
compound heterozygous for a truncating (c. 4699C> T; p. Gln1567*) and a missense variant
(c. 4664A> G; p. Glu1555Gly). All three patients shared key clinical features, including …
families to date. We describe three patients from two families (from Australia and the UK)
with a myopathy caused by recessive mutations in MYH7. The Australian family was
homozygous for a c. 5134C> T, p. Arg1712Trp mutation, whilst the UK patient was
compound heterozygous for a truncating (c. 4699C> T; p. Gln1567*) and a missense variant
(c. 4664A> G; p. Glu1555Gly). All three patients shared key clinical features, including …