A severe @entity8491 with "dropped head" caused by novel XXXX mutations.

@entity1 @entity146 @entity3045 @entity4836 @entity425 @entity4610 @entity1576 @entity8491 @entity5129 @entity28972
INTRODUCTION: @entity8491 are rare. Mutations in @entity28972 were first described in 2004. Thirteen @entity1 have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS: Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS: We describe the case of a @entity1 with prenatal onset and severe @entity1576 with a persisting need for ventilation. The @entity1 had @entity146 , marked @entity425 causing a "dropped head," and some @entity425 . Ophthalmoparesis developed during the first year of life. @entity3045 led to improvement, @entity5129 had a modest effect, but @entity4836 produced deterioration. Two novel mutations in @entity28972 were found by whole exome sequencing. CONCLUSIONS: We expand the phenotype of @entity8491 with @entity28972 mutations, describing a more severe clinical course with prenatal onset. Predominant bulbar and @entity425 with @entity425 and @entity4610 are diagnostic clues. Muscle Nerve, 2015.
