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Extraocular muscle involvement, although frequently described in neuromuscular diseases, is not usually reported in muscular dystrophies, except for oculopharyngeal muscular dystrophy.1
Limb girdle muscular dystrophy 1C (LGMD1C) is caused by mutations in the caveolin-3 gene (CAV3) that codes for the muscle isoform of caveolin, which is the main component of caveolae sarcoplasmic microdomains involved in signal transduction mechanisms.2 Mutations in CAV3 cause at least three other muscle phenotypes: distal myopathy, isolated hyperCKaemia and rippling muscle disease (RMD), an autosomal dominant disorder characterised by mechanically triggered contractions of skeletal muscle.2
The clinical features of the LGMD phenotype include calf hypertrophy and mild to moderate proximal muscle weakness but not external ophthalmoparesis (EO).
We report on a patient with EO and a CAV3 linked LGMD phenotype without clinical or electric features of rippling phenomenon.
A 37-year-old man, healthy until age 25 years, came to our attention for progressive limb weakness causing difficulty in climbing stairs and running.
Family members (parents, two maternal aunts, maternal uncle, paternal uncle and six first cousins) were reported to be healthy but refused to be examined.
Neurological examination showed extraocular muscle paresis with vertical and lateral gaze limitation, bilateral exophthalmos and partial blepharoptosis, more evident …