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  • SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

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Genotype-phenotype correlations
Original article
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

Authors

  1. Correspondence to Dr Richard J L F Lemmers, Human Genetics, Leids Universitair Medisch Centrum, Leiden 2333 ZA, The Netherlands; r.j.l.f.lemmers{at}lumc.nl
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Citation

Lemmers RJLF, van der Stoep N, Vliet PJVD, et al
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Journal of Medical Genetics 2019;56:693-700.

Publication history

  • Received March 21, 2019
  • Revised May 11, 2019
  • Accepted May 15, 2019
  • First published June 26, 2019.
Online issue publication 
October 05, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.