title: Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
abstract: Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to foot deformities as the most striking clinical symptoms. Mutations of the gene encoding the immunoglobulin heavy chain μ-binding protein 2, mapped on chromosome 11q13, are the cause of the disease. We present the clinical and mutational characteristics of ten patients in the Netherlands who showed considerable clinical variability; they carried six novel mutations, including a deletion of exon 2. However, there were no clear phenotype-genotype correlations.
authors.affiliation: Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. x.stalpers@cwz.nl
authors.forename: Xenia L
authors.initials: XL
authors.lastname: Stalpers
authors.forename: Aad
authors.initials: A
authors.lastname: Verrips
authors.forename: Bwee Tien
authors.initials: BT
authors.lastname: Poll-The
authors.forename: Jan-Maarten
authors.initials: JM
authors.lastname: Cobben
authors.forename: Irina N
authors.initials: IN
authors.lastname: Snoeck
authors.forename: Irenaeus F M
authors.initials: IF
authors.lastname: de Coo
authors.forename: Alice
authors.initials: A
authors.lastname: Brooks
authors.forename: Saskia
authors.initials: S
authors.lastname: Bulk
authors.forename: Rob
authors.initials: R
authors.lastname: Gooskens
authors.forename: Annemarie
authors.initials: A
authors.lastname: Fock
authors.forename: Corien
authors.initials: C
authors.lastname: Verschuuren-Bemelmans
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: Marianne
authors.initials: M
authors.lastname: de Visser
authors.forename: Henny H
authors.initials: HH
authors.lastname: Lemmink
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D018908:Muscle Weakness / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009426:Netherlands; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D014157:Transcription Factors