Corrado Angelini
Corrado Angelini
Females with X-Linked Muscle Disorders: an underestimated patient population [0.03%]
被低估的患者群体：女性X连锁肌肉病患者
Luisa Politano
Luisa Politano
Carriers of genetic diseases including female carriers of X-linked disorders are traditionally believed to be asymptomatic due to the compensatory presence of the unmutated gene on the other allele. However, in recent decades numerous contr...
What did we learn from new treatments in SMA? A narrative review [0.03%]
新的脊髓性肌萎缩症治疗手段带来了哪些启示？一项叙事综述
Eugenio Mercuri,Gianpaolo Cicala,Marianna Villa et al.
Eugenio Mercuri et al.
Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder caused by SMN1 gene mutations, leading to inevitable motoneuronal degeneration. The introduction of disease modifying therapies has dramatically altered its natural histo...
Ilaria Saltarella,Paola Laghetti,Simone Dell&#x;Atti et al.
Ilaria Saltarella et al.
Objectives: Non-dystrophic myotonias (NDM) are rare diseases due to mutations in the voltage-gated sodium (Nav1.4) and chloride (ClC-1) channels expressed in skeletal muscle fibers. We provide an up-to-date review of phar...
Management of Pompe disease alongside and beyond ERT: a narrative review [0.03%]
α-葡萄糖苷酶抑制剂联合酶替代治疗之外的庞贝病管理：综述
Barbara Risi,Filomena Caria,Enrica Bertella et al.
Barbara Risi et al.
Background: Pompe disease is a lysosomal storage disorder that primarily affects muscles, and its natural history has been transformed over the past 20 years by therapies designed to restore the deficient enzyme function,...
Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now? [0.03%]
临床试验时代面肩肱型肌营养不良症的研究进展如何？
Francesca Torri,Beatrice Ciurli,Mariaconcetta Rende et al.
Francesca Torri et al.
Objectives: Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disorder characterized by progressive muscle weakness, especially in the face, shoulders, and upper limbs. Despite extensive research, the unde...
Gabriele Siciliano,Michelangelo Mancuso,Giulia Ricci
Gabriele Siciliano
Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report [0.03%]
常染色体隐性遗传贝特勒肌营养不良严重进行性呼吸系统受累一例报告
Anna Annunziata,Gerardo Langella,Rosa Cauteruccio et al.
Anna Annunziata et al.
Bethlem myopathy (BM) was first described in 1976 by Bethlem and van Wijngaarden in patients who presented a myopathy characterized by slowly progressive muscle weakness and typical flexion contractures of the long finger flexors, wrists, e...
Mattia Porcino,Fabio Guccione,Cristian Usbergo et al.
Mattia Porcino et al.
Objective: This case study aimed to evaluate the safety and efficacy of sleeve gastrectomy surgery in an obese patient with Late-onset Pompe disease (LOPD) and to explore the potential role of bariatric surgery in improvi...
The TRIM32 geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy [0.03%]
TRIM32基因表型谱：文献回顾及患有肌管性肌病的两位兄弟的25年临床随访研究
Maria Caputo,Benedikt Schoser
Maria Caputo
Objectives: Pathogenic TRIM32 gene variant was first described in 1976 in the Hutterite population of North America, presenting a phenotype of Limb-girdle muscular dystrophy R8 (LGMDR8, formerly termed LGMD2H). In recent ...