Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.08.006
Abstract: Muscle imaging has progressively gained popularity in the neuromuscular field. Together with detailed clinical examination and muscle biopsy, it has become one of the main tools for deep phenotyping and orientation of etiological diagnosis. Even… read more here.
Keywords: pattern recognition; machine learning; muscle; learning approaches ... See more keywords
Caveolinopathy: clinical, histological and muscle imaging features and follow-up in a multicenter retrospective cohort.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of neurology"
DOI: 10.1111/ene.15832
Abstract: BACKGROUND CAV3 gene mutations, mostly inherited as an autosomal dominant trait, cause various skeletal muscle diseases. Clinical presentations encompass proximal myopathy, distal myopathy, or an isolated persistent high creatine kinase (CK) with a major overlapping… read more here.
Keywords: caveolinopathy clinical; retrospective cohort; muscle; muscle imaging ... See more keywords
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1152738
Abstract: Introduction Rimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding sequences and structural mutations,… read more here.
Keywords: rvms; rimmed vacuolar; muscle; muscle imaging ... See more keywords