Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
I Mahjneh, G Marconi, K Bushby, LVB Anderson… - Neuromuscular …, 2001 - Elsevier
The limb-girdle muscular dystrophies are a group of inherited neuromuscular disorders
which are clinically and genetically heterogeneous. We have been able to carry out a follow-
up study on 10 patients from a large Palestinian family with a confirmed mutation in the
dysferlin gene. These patients have been followed for more than 23 years since the onset of
the disease. They all had normal developmental milestones. The onset of the disease was
usually in the second decade, more rarely in the third and fourth decades. The first …
which are clinically and genetically heterogeneous. We have been able to carry out a follow-
up study on 10 patients from a large Palestinian family with a confirmed mutation in the
dysferlin gene. These patients have been followed for more than 23 years since the onset of
the disease. They all had normal developmental milestones. The onset of the disease was
usually in the second decade, more rarely in the third and fourth decades. The first …