Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease
J Palmio, PH Jonson, A Evilä, M Auranen… - Neuromuscular …, 2015 - Elsevier
DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four
different coding missense mutations, p. F89I, p. F93I, p. F93L, and p. P96R, have been
reported in families from Europe, North America and Asia. The previously known mutations
cause mainly adult-onset proximal muscle weakness with moderate progression and without
respiratory involvement. A Finnish family and a British patient have been studied extensively
due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of …
different coding missense mutations, p. F89I, p. F93I, p. F93L, and p. P96R, have been
reported in families from Europe, North America and Asia. The previously known mutations
cause mainly adult-onset proximal muscle weakness with moderate progression and without
respiratory involvement. A Finnish family and a British patient have been studied extensively
due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of …