Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

Xenia L. Stalpers; Aad Verrips; Bwee Tien Poll-The; Jan-Maarten Cobben; Irina N. Snoeck; Irenaeus F. M. de Coo; Alice Brooks; Saskia Bulk; Rob Gooskens; Annemarie Fock; Corien Verschuuren-Bemelmans; Richard J. Sinke; Marianne de Visser; Henny H. Lemmink

doi:https://doi.org/10.1016/j.nmd.2013.03.002

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

Xenia L. Stalpers, Aad Verrips, Bwee Tien Poll-The, Jan-Maarten Cobben, Irina N. Snoeck, Irenaeus F. M. de Coo, Alice Brooks, Saskia Bulk, Rob Gooskens, Annemarie Fock, Corien Verschuuren-Bemelmans, Richard J. Sinke, Marianne de Visser, Henny H. Lemmink

Research output: Contribution to journal › Article › Academic › peer-review

17 Citations (Scopus)

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

Original language	English
Pages (from-to)	461-468
Journal	Neuromuscular disorders
Volume	23
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2013.03.002
Publication status	Published - 2013

Access to Document

https://doi.org/10.1016/j.nmd.2013.03.002

Cite this

Stalpers, X. L., Verrips, A., Poll-The, B. T., Cobben, J.-M., Snoeck, I. N., de Coo, I. F. M., Brooks, A., Bulk, S., Gooskens, R., Fock, A., Verschuuren-Bemelmans, C., Sinke, R. J., de Visser, M., & Lemmink, H. H. (2013). Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands. Neuromuscular disorders, 23(6), 461-468. https://doi.org/10.1016/j.nmd.2013.03.002

@article{b8ecebdb8af74d57b031e71171f0ef2d,

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",

author = "Stalpers, {Xenia L.} and Aad Verrips and Poll-The, {Bwee Tien} and Jan-Maarten Cobben and Snoeck, {Irina N.} and {de Coo}, {Irenaeus F. M.} and Alice Brooks and Saskia Bulk and Rob Gooskens and Annemarie Fock and Corien Verschuuren-Bemelmans and Sinke, {Richard J.} and {de Visser}, Marianne and Lemmink, {Henny H.}",

year = "2013",

doi = "https://doi.org/10.1016/j.nmd.2013.03.002",

language = "English",

volume = "23",

pages = "461--468",

journal = "Neuromuscular disorders",

issn = "0960-8966",

publisher = "Elsevier Limited",

number = "6",

}

Stalpers, XL, Verrips, A, Poll-The, BT, Cobben, J-M, Snoeck, IN, de Coo, IFM, Brooks, A, Bulk, S, Gooskens, R, Fock, A, Verschuuren-Bemelmans, C, Sinke, RJ, de Visser, M & Lemmink, HH 2013, 'Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands', Neuromuscular disorders, vol. 23, no. 6, pp. 461-468. https://doi.org/10.1016/j.nmd.2013.03.002

TY - JOUR

T1 - Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

AU - Stalpers, Xenia L.

AU - Verrips, Aad

AU - Poll-The, Bwee Tien

AU - Cobben, Jan-Maarten

AU - Snoeck, Irina N.

AU - de Coo, Irenaeus F. M.

AU - Brooks, Alice

AU - Bulk, Saskia

AU - Gooskens, Rob

AU - Fock, Annemarie

AU - Verschuuren-Bemelmans, Corien

AU - Sinke, Richard J.

AU - de Visser, Marianne

AU - Lemmink, Henny H.

PY - 2013

Y1 - 2013

N2 - 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

AB - 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

U2 - https://doi.org/10.1016/j.nmd.2013.03.002

DO - https://doi.org/10.1016/j.nmd.2013.03.002

M3 - Article

C2 - 23566544

SN - 0960-8966

VL - 23

SP - 461

EP - 468

JO - Neuromuscular disorders

JF - Neuromuscular disorders

IS - 6

ER -