ORCID Profile
0000-0002-4309-2465
Current Organisations
Newcastle University
,
University of Oxford
,
University of Oxford University College Oxford
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Publications
Extending the clinical and mutational spectrum ofTRIM32-related myopathies in a non-Hutterite population
Publisher: BMJ
Date: 19-06-2018
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
Publisher: Elsevier BV
Date: 11-2017
DOI: 10.1016/J.NMD.2017.07.006
Abstract: Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.131T > G (p.Leu44Pro) substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3, leading to a 50% reduction of enzymatic activity. Decreased availability of DPM as an essential donor substrate for protein O-mannosyltransferase (POMT) 1 and 2 explains defective skeletal muscle alpha-dystroglycan O-glycosylation. Our findings show that DPM3 mutations may lead to an isolated and mild limb girdle muscular dystrophy phenotype without cardiomyopathy.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Publisher: Elsevier BV
Date: 09-2020
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Publisher: Springer Science and Business Media LLC
Date: 17-11-2017
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population
Publisher: Springer Science and Business Media LLC
Date: 15-03-2017
DOI: 10.1038/EJHG.2017.16
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakn
Publisher: Springer Science and Business Media LLC
Date: 30-07-2018
Limb girdle muscular dystrophy due to mutations in POMT2
Publisher: BMJ
Date: 24-11-2017
Abstract: Mutations in the gene coding for protein O-mannosyl-transferase 2 ( POMT2 ) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far. ClinicalTrials.gov ID: NCT02759302 We report 12 new cases of LGMD2N, aged 18–63 years. Muscle involvement was assessed by MRI, muscle strength testing and muscle biopsy analysis. Other clinical features were also recorded. Presenting symptoms were difficulties in walking, pain during exercise, delayed motor milestones and learning disabilities at school. All had some degree of cognitive impairment. Brain MRIs were abnormal in 3 of 10 patients, showing ventricular enlargement in one, periventricular hyperintensities in another and frontal atrophy of the left hemisphere in a third patient. Most affected muscle groups were hip and knee flexors and extensors on strength testing. On MRI, most affected muscles were hamstrings followed by paraspinal and gluteal muscles. The 12 patients in our cohort carried 11 alleles with known mutations, whereas 11 novel mutations accounted for the remaining 13 alleles. We describe the first cohort of patients with LGMD2N and show that unlike other LGMD types, all patients had cognitive impairment. Primary muscle involvement was found in hamstring, paraspinal and gluteal muscles on MRI, which correlated well with reduced muscle strength in hip and knee flexors and extensors. The study expands the mutational spectrum for LGMD2N, with the description of 11 novel POMT2 mutations in the association with LGMD2N. NCT02759302.
Related Organisations
Newcastle University
Location: United Kingdom of Great Britain and Northern Ireland
University Of Oxford
Location: United Kingdom of Great Britain and Northern Ireland
University Of Oxford University College Oxford
Location: United Kingdom of Great Britain and Northern Ireland
Related Funding Activities
No related grants have been discovered for Lauren Charlotte Phillips.