| Title: |
Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy. |
| Authors: |
Kolski HK; Leonard NJ; Lemmers RJ; Bamforth JS |
| Source: |
Muscle & Nerve; Apr2008, Vol. 37 Issue 4, p526-529, 4p |
| Abstract: |
We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Möbius syndrome and congenital ophthalmoplegia. This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness. FSHD genetic testing revealed a pathogenic haplotype with a D4Z4 repeat of 30 kb. The father carries the same allele, although is minimally affected. This unusual case expands the genotypic-phenotypic spectrum of FSHD. Muscle Nerve, 2007. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |