Clinical and genetic features of anoctaminopathy in Saudi Arabia

References

1. ↵
   1. Duran C,
   2. Hartzell HC

   (2011) Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? Acta Pharmacol Sin 32, 685–692.
2. ↵
   1. Jarry J,
   2. Rioux MF,
   3. Bolduc V,
   4. Robitaille Y,
   5. Khoury V,
   6. Thiffault I,
   7. et al.

   (2007) A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 130, 368–380.
3. ↵
   1. Bolduc V,
   2. Marlow G,
   3. Boycott KM,
   4. Saleki K,
   5. Inoue H,
   6. Kroon J,
   7. et al.

   (2010) Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 86, 213–221.
4. ↵
   1. Penttilä S,
   2. Palmio J,
   3. Suominen T,
   4. Raheem O,
   5. Evilä A,
   6. Muelas Gomez N,
   7. et al.

   (2012) Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology 78, 897–903.
5. ↵
   1. Witting N,
   2. Duno M,
   3. Petri H,
   4. Krag T,
   5. Bundgaard H,
   6. Kober L,
   7. et al.

   (2013) Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. J Neurol 260, 2084–2093.
6. ↵
   1. Hicks D,
   2. Sarkozy A,
   3. Muelas N,
   4. Koehler K,
   5. Huebner A,
   6. Hudson G,
   7. et al.

   (2011) A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 134, 171–182.
7. ↵
   1. Van der Kooi AJ,
   2. Ten Dam L,
   3. Frankhuizen WS,
   4. Straathof CS,
   5. van Doorn PA,
   6. de Visser M,
   7. et al.

   (2013) ANO5 mutations in the Dutch limb girdle muscular dystrophy population. Neuromuscul Disord 23, 456–460.
8. ↵
   1. Magri F,
   2. Del Bo R,
   3. D’Angelo MG,
   4. Sciacco M,
   5. Gandossini S,
   6. Govoni A,
   7. et al.

   (2012) Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscul Disord 22, 934–943.
9. ↵
   1. Liewluck T,
   2. Winder TL,
   3. Dimberg EL,
   4. Crum BA,
   5. Heppelmann CJ,
   6. Wang Y,
   7. et al.

   (2013) ANO5-muscular dystrophy: clinical, pathological and molecular findings. Eur J Neurol 20, 1383–1389.
10. ↵
    1. Sarkozy A,
    2. Hicks D,
    3. Hudson J,
    4. Laval SH,
    5. Barresi R,
    6. Hilton-Jones D,
    7. et al.

    (2013) ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat 34, 1111–1118.
11. 1. Wahbi K,
    2. Béhin A,
    3. Bécane HM,
    4. Leturcq F,
    5. Cossée M,
    6. Laforêt P,
    7. et al.

    (2013) Dilated cardiomyopathy in patients with mutations in anoctamin 5. Int J Cardiol 168, 76–79.
12. ↵
    1. Mahjneh I,
    2. Bashir R,
    3. Kiuru-Enari S,
    4. Linssen W,
    5. Lamminen A,
    6. Visser MD

    (2012) Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. Neuromuscul Disord 22, Suppl 2, S130–S136.
13. ↵
    1. Pénisson-Besnier I,
    2. Saint-André JP,
    3. Hicks D,
    4. Sarkozy A,
    5. Croué A,
    6. Hudson J,
    7. et al.

    (2012) Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis. J Neurol 259, 1988–1990.
14. ↵
    1. Lahoria R,
    2. Winder TL,
    3. Lui J,
    4. Al-Owain MA,
    5. Milone M

    (2014) Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man. Muscle Nerve 50, 610–613.
15. ↵
    1. Milone M,
    2. Liewluck T,
    3. Winder TL,
    4. Pianosi PT

    (2012) Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord 22, 13–15.