title: Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
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.
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Anamaria
authors: A
authors: Bolocan
authors: AP-HP Service de Pédiatrie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
authors: Susana
authors: S
authors: Quijano-Roy
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Andreea M
authors: AM
authors: Seferian
authors: AP-HP Département de génétique, UF de génétique clinique, Hôpital Robert Debré, Paris, France.
authors: Clarisse
authors: C
authors: Baumann
authors: 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.
authors: Valérie
authors: V
authors: Allamand
authors: AP-HP UF Cardiogénétique et Myogénétique, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Pascale
authors: P
authors: Richard
authors: AP-HP Service de Pédiatrie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
authors: Brigitte
authors: B
authors: Estournet
authors: AP-HP Service de Radiologie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
authors: Robert
authors: R
authors: Carlier
authors: AP-HP Département de Génétique, UF de Génétique Moléculaire, Hôpital Robert Debré, Paris, France.
authors: Hélène
authors: H
authors: Cavé
authors: 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.
authors: Corine
authors: C
authors: Gartioux
authors: AP-HP Service de Pédiatrie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
authors: Nathalie
authors: N
authors: Blin
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Anne-Gaëlle
authors: AG
authors: Le Moing
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Teresa
authors: T
authors: Gidaro
authors: AP-HP Service de Pédiatrie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France.
authors: Dominique P
authors: DP
authors: Germain
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Michel
authors: M
authors: Fardeau
authors: 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.
authors: Thomas
authors: T
authors: Voit
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. Electronic address: l.servais@institut-myologie.org.
authors: Laurent
authors: L
authors: Servais
authors: Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
authors: Norma Beatriz
authors: NB
authors: Romero
mesh_terms: D000604:Amino Acyl-tRNA Synthetases / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009470:Muscle Spindles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*
chemical_list: D000604:Amino Acyl-tRNA Synthetases; C093612:HARS2 protein, human
keywords: CMD; Excess of neuromuscular spindles; HRAS; Ullrich congenital muscular dystrophy