INTRODUCTION: Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia. METHODS: In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy-5. RESULTS: A 49-year-old Arabic man from a consanguineous family presented with a 5-year history of myalgias, hyperCKemia and an episode of unprovoked rhabdomyolysis. Muscle biopsy showed mild myopathic changes and interstitial amyloid deposition. ANO5 analysis detected a novel homozygous deletion of approximately 11.9 kb encompassing exons 13-17, predicted to be pathogenic. CONCLUSIONS: Anoctaminopathy-5 can manifest with a phenotype reminiscent of metabolic myopathy and should be considered as a potential cause of myalgia and myoglobinuria. Amyloid deposition in the muscle biopsy is helpful for the diagnosis. A novel homozygous ANO5 deletion was identified, suggesting that screening for common mutations may have low yield in non-European subjects.
INTRODUCTION: Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia. METHODS: In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy-5. RESULTS: A 49-year-old Arabic man from a consanguineous family presented with a 5-year history of myalgias, hyperCKemia and an episode of unprovoked rhabdomyolysis. Muscle biopsy showed mild myopathic changes and interstitial amyloid deposition. ANO5 analysis detected a novel homozygous deletion of approximately 11.9 kb encompassing exons 13-17, predicted to be pathogenic. CONCLUSIONS: Anoctaminopathy-5 can manifest with a phenotype reminiscent of metabolic myopathy and should be considered as a potential cause of myalgia and myoglobinuria. Amyloid deposition in the muscle biopsy is helpful for the diagnosis. A novel homozygous ANO5 deletion was identified, suggesting that screening for common mutations may have low yield in non-European subjects.
Authors: Renata Siciliani Scalco; Alice R Gardiner; Robert Ds Pitceathly; Edmar Zanoteli; Jefferson Becker; Janice L Holton; Henry Houlden; Heinz Jungbluth; Ros Quinlivan Journal: Orphanet J Rare Dis Date: 2015-05-02 Impact factor: 4.123
Authors: Saeed Bohlega; Dorothy M Monies; Ahmad A Abulaban; Hatem N Murad; Hindi N Alhindi; Brian F Meyer Journal: Neurosciences (Riyadh) Date: 2015-04 Impact factor: 0.906
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