Condition: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
rs1000091588 in
IGHMBP2 gene and
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
PMID 17431882 2007 Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
PMID 14681881 2003 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
PMID 25568292 2015 Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
PMID 25439726 2014 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
PMID 24388491 2014 Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
PMID 26709713 2017 Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
PMID 11528396 2001 Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
PMID 15290238 2004 Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
PMID 18802676 2009 Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
PMID 15503272 2004 Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.
PMID 15108294 2004 Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
PMID 19158098 2009 IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
PMID 22157136 2012 The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
PMID 16765827 2006 Mutation of gene in spinal muscular atrophy respiratory distress type I.
PMID 14506069 2003 Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
PMID 19157874 2009 Interfamilial phenotypic heterogeneity in SMARD1.
PMID 234316 1975 The distribution of ammonia between extracellular and intracellular compartments of the rat brain.
PMID 15108294 2004 We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [ c.587A>G (p.Gln196Arg), c.647C>T (p.Pro216Leu), c.752T>C (p.Leu251Pro), c.1693G>A (p.Asp565Asn), c.1730T>C (p.Leu577Pro), c.1807C>T (p.Arg603Cys), c.1909C>T (p.Arg637Cys)] and two nonsense mutations [ c.1488C>A (p.Cys496X), c.2368C>T (p.Arg790X)].
PMID 28202949 2017 Clinical diversity caused by novel IGHMBP2 variants.
PMID 15108294 2004 We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [ c.587A>G (p.Gln196Arg), c.647C>T (p.Pro216Leu), c.752T>C (p.Leu251Pro), c.1693G>A (p.Asp565Asn), c.1730T>C (p.Leu577Pro), c.1807C>T (p.Arg603Cys), c.1909C>T (p.Arg637Cys)] and two nonsense mutations [ c.1488C>A (p.Cys496X), c.2368C>T (p.Arg790X)].
PMID 15269181 2004 Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
PMID 25454169 2015 Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
rs886037759 in
MRPL21;IGHMBP2 gene and
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.