P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Hicks, Patricia J.; Sarkozy, Andrea; Muelas, Nuria; Koehler, Katrin; Huebner, Angela; Hudson, Gavin; Chinnery, P.F.; Barresi, Rita; Eagle, M.; Polvikoski, Tuomo; Bailey, G.; Miller, James; Radunović, Aleksandar; Hughes, PJ; Roberts, Roland G.; Krause, Sabine; Walter, MC; Laval, S.; Straub, V.; Lochmüller, Hanns; Bushby, K.

doi:10.1016/s0960-8966(11)70082-7

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“…coordination of annexins), particularly in muscle where it is highly expressed (26). The clinical presentation of patient 2 with adult onset, slowly progressive proximal lower limb and biceps weakness and significantly elevated CK is typical of other cases of LGMD R12 reported in the literature (2,3).…”

Section: Discussionmentioning

confidence: 77%

“…The exact function of the ANO5 protein is not completely understood although it has been shown to play a role in sarcolemma repair (1). Recessive variants of ANO5 have been associated with a range of muscle diseases including limb girdle muscular dystrophy (LGMD R12), (2,3) distal myopathy (Miyoshi-like muscular dystrophy type 3), (4) exercise induced myalgia, (5) recurrent rhabdomyolysis, (6) axial myopathy (7) and asymptomatic hyperCKemia (5).…”

Section: Introductionmentioning

confidence: 99%

“…Patients with LGMD R12 typically present in adulthood with slowly progressive proximal lower limb and bicep weakness that is often asymmetric. This is associated with markedly elevated creatine kinase (CK) levels (2,3). For unknown reasons females homozygous for ANO5 variants tend to have a less severe phenotype than males (5).…”

Section: Introductionmentioning

confidence: 99%

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Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

et al. 2022

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Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and markedly elevated creatine kinase. Next generation sequencing using a custom-designed neuromuscular panel was performed in both patients. In one patient, 336 genes were targeted for casual variants and in the other patient (using a later panel design), 464 genes were targeted. One patient was homozygous for a novel splice variant [c.294+5G>A; p.(Ala98Ins4*)] in ANO5. Another patient was compound heterozygous for two variants in ANO5; a common frameshift variant [c.191dupA; p.(Asn64fs)] and a novel missense variant [c.952G>C; p.(Ala318Pro)]. These findings support the utility of next generation sequencing in the diagnosis of patients presenting with a Limb girdle muscular dystrophy phenotype and extends the genotypic spectrum of ANO5 disease.

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Section: Discussionmentioning

confidence: 77%