Results 11 to 20 of about 1,370 (166)

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility. [PDF]

Eur J Neurol
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Milone M, Nicolau S, Niu Z, Liewluck T, Sorenson EJ, Shen XM, Harper CM, Litchy WJ.   +7 more
europepmc   +2 more sources

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy. [PDF]

J Cell Mol Med
ABSTRACT Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Zhao M, Liu Y, Fan L, Liu Z, Deng Y, Tao L.   +5 more
europepmc   +2 more sources

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +2 more sources

UDP-glucose dehydrogenase variants cause dystroglycanopathy. [PDF]

Ann Clin Transl Neurol
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Reelfs AM, Stephan CM, Czech TM, Cox MO, Joseph S, Darbro BW, Moore SA, Campbell KP, Mathews KD.   +8 more
europepmc   +2 more sources

Congenital muscular dystrophy type 1A with residual merosin expression [PDF]

Korean Journal of Pediatrics, 2014
Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal ...
Hyo Jeong Kim, Young-Chul Choi, Hyung Jun Park, Young-Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang   +6 more
doaj   +1 more source

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings. [PDF]

Hum Mutat
Limb‐girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders characterized by overlapping clinical features, including progressive muscle weakness and wasting, elevated creatine kinase (CK) levels, and motor and skeletal abnormalities.
Yousaf H, Khalid LB, Ahmed A, Ghumman RZ, Hassan S, Zahra H, Zafar G, Rubab K, Azakai H, Khan HN, Mahmood Q, Ali A, Mian BA, Ali Z, Raza M, Bano S, Mukhtiar K, Abdullah U, Ibrahim SH, Baig SM, Toft M, Kirmani S, Iqbal Z, Fatima A.   +23 more
europepmc   +2 more sources

Rigid spine syndrome: case report [PDF]

Arquivos de Neuro-Psiquiatria, 1998
We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome.
VIVIANE H. FLUMIGNAN ZÉTOLA, ROSANA HERMÍNIA SCOLA, SALMO RASKIN, DANIEL MONTE SERRAT PREVENDELLO, YLMAR CORREA NETO, LINEU CESAR WERNECK   +5 more
doaj   +1 more source

The congenital muscular dystrophies. [PDF]

Ann Child Neurol Soc
Abstract Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders. Results CMD is characterized
Topaloğlu H, Poorshiri B.
europepmc   +2 more sources

Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination. [PDF]

Mol Genet Genomic Med
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Huang S, Li Y, Xin J, Mo W, Lin X, Mai B, He J, Zhong X, Xu J.   +8 more
europepmc   +2 more sources

<i>LMNA</i>-related muscular dystrophy presenting as an inflammatory myopathy. [PDF]

Ann Child Neurol Soc
Abstract Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities.
Almansa AS, Chrzanowski SM, Rajabi F, Day-Lewis M, Lee PY, Lidov HGW, Lehman LL, Hayes LH.   +7 more
europepmc   +2 more sources