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Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Author information

1
Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
2
AP-HP Service de Pédiatrie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
3
AP-HP Département de génétique, UF de génétique clinique, Hôpital Robert Debré, Paris, France.
4
Sorbonne Universités UPMC Univ Paris 06 UM76, Centre de Recherche en Myologie, Institut de Myologie, Paris, France; Inserm, U974, Paris, France; CNRS FRE 3617, Paris, France.
5
AP-HP UF Cardiogénétique et Myogénétique, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
6
AP-HP Service de Radiologie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
7
AP-HP Département de Génétique, UF de Génétique Moléculaire, Hôpital Robert Debré, Paris, France.
8
Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Sorbonne Universités UPMC Univ Paris 06 UM76, Centre de Recherche en Myologie, Institut de Myologie, Paris, France; Inserm, U974, Paris, France; CNRS FRE 3617, Paris, France.
9
Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. Electronic address: l.servais@institut-myologie.org.

Abstract

We report on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy has been reported only in patients with mutations in the HRAS gene. Sequence analysis of the subject's HRAS gene from blood leukocytes and skeletal muscle revealed a previously described heterozygous missense mutation (c.187G>A, p. Glu63Lys). The present report thus extends the differential diagnosis of congenital muscular dystrophy with major "retractile" phenotypes and adds congenital muscular dystrophy to the clinical spectrum of HRAS-related disorders.

KEYWORDS:

CMD; Excess of neuromuscular spindles; HRAS; Ullrich congenital muscular dystrophy

PMID:
25070542
DOI:
10.1016/j.nmd.2014.06.437
[Indexed for MEDLINE]

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