title: Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
abstract: Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy.
authors.affiliation: I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address: a.seferian@institut-myologie.org.
authors.forename: Andreea M
authors.initials: AM
authors.lastname: Seferian
authors.affiliation: Sorbonne Universities, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France; Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France; Reference center for Neuromuscular Pathologies for Eastern Paris, Institute of Myology, AP-HP, GHU La Pitié-Salpêtrière, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Bosson
authors.affiliation: Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Pelletier
authors.affiliation: Pediatric Pulmonology Department, AP-HP, Armand Trousseau Hospital, Université Pierre et Marie Curie-Paris6, Inserm U938, Paris, France.
authors.forename: Jessica
authors.initials: J
authors.lastname: Taytard
authors.affiliation: Pediatric Rehabilitation Department, AP-HP, Armand Trousseau Hospital, Paris, France.
authors.forename: Veronique
authors.initials: V
authors.lastname: Forin
authors.affiliation: I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France.
authors.forename: Teresa
authors.initials: T
authors.lastname: Gidaro
authors.affiliation: I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France.
authors.forename: Elena
authors.initials: E
authors.lastname: Gargaun
authors.affiliation: NMR Laboratory, Institute of Myology, AIM & CEA, Paris, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Carlier
authors.affiliation: Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Fauré
authors.affiliation: Sorbonne Universities, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France; Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France; Reference center for Neuromuscular Pathologies for Eastern Paris, Institute of Myology, AP-HP, GHU La Pitié-Salpêtrière, Paris, France.
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.affiliation: Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
authors.forename: John
authors.initials: J
authors.lastname: Rendu
authors.affiliation: I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address: l.servais@institut-myologie.org.
authors.forename: Laurent
authors.initials: L
authors.lastname: Servais
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype
chemical_list: C000595273:KLHL40 protein, human; D009124:Muscle Proteins
keywords: KLHL40; Nemaline myopathy