Ann A Little1, Paul E McKeever, Kirsten L Gruis. 1. Department of Neurology, University of Michigan Medical Center, 1500 E. Medical Center Drive, 1C327 UH, EMG Lab, Ann Arbor, Michigan 48109, USA. alitt@med.umich.edu
Abstract
INTRODUCTION: We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness. METHODS: Case report. RESULTS: Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations. CONCLUSIONS: This case report expands the known mutations resulting in LGMD 2L and supports the assertion that Anoctamin 5 mutations are more prevalent than previously recognized.
INTRODUCTION: We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness. METHODS: Case report. RESULTS: Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations. CONCLUSIONS: This case report expands the known mutations resulting in LGMD 2L and supports the assertion that Anoctamin 5 mutations are more prevalent than previously recognized.
Authors: Jing Xu; Mona El Refaey; Li Xu; Lixia Zhao; Yandi Gao; Kyle Floyd; Tallib Karaze; Paul M L Janssen; Renzhi Han Journal: Skelet Muscle Date: 2015-12-21 Impact factor: 4.912
Authors: André M S Silva; Antônio R Coimbra-Neto; Paulo Victor S Souza; Pablo B Winckler; Marcus V M Gonçalves; Eduardo B U Cavalcanti; Alzira A D S Carvalho; Cláudia F D R Sobreira; Clara G Camelo; Rodrigo D H Mendonça; Eduardo D P Estephan; Umbertina C Reed; Marcela C Machado-Costa; Mario E T Dourado-Junior; Vanessa C Pereira; Marcelo M Cruzeiro; Paulo V P Helito; Laís U Aivazoglou; Leonardo V D Camargo; Hudson H Gomes; Amaro J S D Camargo; Wladimir B V D R Pinto; Bruno M L Badia; Luiz H Libardi; Mario T Yanagiura; Acary S B Oliveira; Anamarli Nucci; Jonas A M Saute; Marcondes C França-Junior; Edmar Zanoteli Journal: Ann Clin Transl Neurol Date: 2019-06-11 Impact factor: 4.511
Authors: Tam Thi Thanh Phuong; Jieun An; Sun Hwa Park; Ami Kim; Hyun Bin Choi; Tong Mook Kang Journal: Korean J Physiol Pharmacol Date: 2019-10-24 Impact factor: 2.016