title: Late-onset pompe disease in Iran: A clinical and genetic report.
abstract: Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations.
  
  
  
  Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had reduced enzyme activity on dried blood spot (DBS) analysis. Genetic investigation was performed to identify the underlying mutations.
  
  
  
  The age of onset ranged from <2 to 38 years. The clinical presentations were heterogeneous. Two siblings presented with foot drop. The most common mutation was c.(-32-13T>G). There were 4 novel mutations: c.(2040 + 2dup); c.(1650delG); c.(1837T>G); and c.(2596delG).
  
  
  
  This is a comprehensive report of LOPD in Iranian patients. Distinct phenotypic and genotypic features in this population are highlighted. Muscle Nerve 55: 835-840, 2017.
authors.affiliation: Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.
authors.forename: Ferdos
authors.initials: F
authors.lastname: Nazari
authors.affiliation: Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.
authors.forename: Farnaz
authors.initials: F
authors.lastname: Sinaei
authors.affiliation: Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, Iran.
authors.forename: Yalda
authors.initials: Y
authors.lastname: Nilipour
authors.affiliation: Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Fatehi
authors.affiliation: Department of Obstetrics and Feto-Maternal Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Berthold
authors.initials: B
authors.lastname: Streubel
authors.affiliation: Children's Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahmoud Reza
authors.initials: MR
authors.lastname: Ashrafi
authors.affiliation: Genetics Department, Special Medical Center, Tehran, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.affiliation: Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D012120:Respiration Disorders / Q000209:etiology; D055815:Young Adult; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D000520:alpha-Glucosidases
keywords: GAA gene mutation; Pompe disease; acid α-glucosidase; glycogen-storage disease type II; late-onset; myopathy